Charcot-Marie-Tooth disease type 4B2
MeSH: C535421ORPHA: 99956
Overview
Charcot-Marie-Tooth disease type 4 that has material basis in mutation in the SBF2 gene
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with Charcot-Marie-Tooth disease type 4B2, sourced from HPO and Orphanet clinical annotations.
Gait disturbanceAbnormal foot morphologyAreflexia of lower limbsMyelin outfoldingsPoor fine motor coordinationDecreased distal sensory nerve action potentialLower limb muscle weaknessDistal upper limb muscle weaknessDistal lower limb muscle weaknessGlaucomaVocal cord paralysisDysphoniaPes cavusScoliosisKyphoscoliosisDistal sensory impairmentProximal lower limb muscle weaknessAreflexia of upper limbsTongue muscle weaknessSensorineural hearing impairmentPtosisCataractBuphthalmosOptic atrophyAutistic behaviorPenetrating foot ulcersDevelopmental glaucomaMotor delaySpecific learning disabilityTremorPes planusRespiratory insufficiencyInability to walkReduced vital capacityParesthesiaProximal upper limb muscle weaknessTongue atrophyTip-toe gaitHand muscle weaknessWeakness of facial musculature
Classification & Codes
MeSH Code
C535421Orphanet Code
ORPHA:99956Charcot-Marie-Tooth disease type 4B2
| MeSH | C535421 |
| Orphanet | ORPHA:99956 |
| Treatments | 0 drug(s) |
| Symptoms on record | 40 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO